Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis

Angel F Remacha; Josep F Nomdedéu; Guiomar Puget; Camino Estivill; M Pilar Sarda; Carme Canals; Anna Aventin

Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis

Haematologica. 2006 May;91(5):719-20.

Authors

Angel F Remacha, Josep F Nomdedéu, Guiomar Puget, Camino Estivill, M Pilar Sarda, Carme Canals, Anna Aventin

PMID: 16670082

Abstract

The JAK2/V617F mutation has been noted in essential thrombocytemia. We investigated 19 cases with refractory anemia with ringed sideroblasts (RARS), including three RARS with thrombocytosis (RARS-T). Only the RARS-T patients showed this mutation. More cases need to be analyzed to determine the prevalence of the JAK2/V617F mutation in RARS-T.

Publication types

Letter

MeSH terms

Aged
Aged, 80 and over
Amino Acid Substitution
Anemia, Refractory / classification
Anemia, Refractory / enzymology
Anemia, Refractory / genetics*
Anemia, Sideroblastic / classification
Anemia, Sideroblastic / enzymology
Anemia, Sideroblastic / genetics*
Disease Progression
Female
Follow-Up Studies
Gene Frequency
Humans
Janus Kinase 2
Megakaryocytes / pathology
Mutation, Missense*
Myelodysplastic Syndromes / classification*
Myeloproliferative Disorders / classification*
Point Mutation*
Primary Myelofibrosis / genetics
Protein-Tyrosine Kinases / genetics*
Proto-Oncogene Proteins / genetics*
Thrombocytosis / classification
Thrombocytosis / enzymology
Thrombocytosis / genetics*
World Health Organization

Substances

Proto-Oncogene Proteins
Protein-Tyrosine Kinases
JAK2 protein, human
Janus Kinase 2